All Phenotypes Pkd1<tm1.1Pcha> MGI Mouse

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Phenotypes associated with this allele

Allele Symbol
Allele Name
Allele ID

Pkd1^tm1.1Pcha
targeted mutation 1.1, Peter Harris
MGI:5476822

Summary

12 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Pkd1^tm1.1Pcha/Pkd1^tm1.1Pcha	involves: 129S1/Sv * C57BL/6	MGI:5476836
ht2	Pkd1^tm1Shh/Pkd1^tm1.1Pcha	involves: 129P2/OlaHsd * 129S1/Sv * C57BL/6	MGI:5476837
cn3	Mirc1^tm1.1Tyj/Mirc1^tm1.1Tyj Pkd1^tm1.1Pcha/Pkd1^tm2Som Tg(Cdh16-cre)91Igr/0	involves: 129 * 129S4/SvJae * C57BL/6 * ICR	MGI:6317335
cn4	Pkd1^tm1.1Pcha/Pkd1^tm2Som Tg(Cdh16-cre)91Igr/0	involves: 129 * 129S4/SvJae * C57BL/6 * ICR	MGI:6317334
cn5	Mirc1^tm1.1Tyj/Mirc1^tm1.1Tyj Pkd1^tm1.1Pcha/Pkd1^tm1.1Pcha Tg(Cdh16-cre)91Igr/0	involves: 129 * 129S4/SvJae * C57BL/6 * ICR	MGI:6317339
cx6	Pkd1^tm1.1Pcha/Pkd1^tm1.1Pcha Ppara^tm1Gonz/Ppara^tm1Gonz	involves: 129 * 129S4/SvJae * C57BL/6	MGI:6317342
cx7	Pkd1^tm1.1Pcha/Pkd1^tm1.1Pcha Tg(Cdh16-cre)91Igr/0	involves: 129 * 129S4/SvJae * C57BL/6 * ICR	MGI:6317338
cx8	Hoxb3os^em1Kabo/Hoxb3os^em1Kabo Pkd1^tm1.1Pcha/Pkd1^tm1.1Pcha	involves: 129 * C57BL/6J	MGI:7612602
cx9	Pkd1^tm1.1Pcha/Pkd1^tm1.1Pcha Pkd2^tm1Som/Pkd2⁺	involves: 129 * C57BL/6J * SJL	MGI:5697044
cx10	Pkd1^tm1.1Pcha/Pkd1⁺ Pkd2^tm1Som/Pkd2^tm2Som	involves: 129 * C57BL/6J * SJL	MGI:5697046
cx11	Pkd1^tm1.1Pcha/Pkd1^tm1.1Pcha Pkd2^tm2Som/Pkd2⁺	involves: 129 * C57BL/6J * SJL	MGI:5697042
cx12	Pkd1^tm1.1Pcha/Pkd1^tm1.1Pcha Pkd2^tm1Som/Pkd2^tm2Som	involves: 129 * C57BL/6J * SJL	MGI:5697045

Allelic Composition	Pkd1^tm1.1Pcha/Pkd1^tm1.1Pcha
Genetic Background	involves: 129S1/Sv * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pkd1^tm1.1Pcha mutation (0 available); any Pkd1 mutation (153 available)

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

Polycystic kidney disease in Pkd1^tm1.1Pcha/Pkd1^tm1.1Pcha mice

renal/urinary system

polycystic kidney ( J:193544 )

• mice develop mild but progressive polycystic kidney disease

• as early as E16.5

• at P1, cysts arise primarily from the proximal tubule

• at 3 months, cysts arise primarily from the collecting duct

• at 3 months, cysts range form 0.3 to 2.5 mm

• cyst burden varies but increased with time

enlarged kidney ( J:193544 )

• kidney volume increases progressively over time until 12 months of age

increased kidney weight ( J:193544 )

• increases progressively over time until 12 months of age

increased renal hamartoma incidence ( J:193544 )

• multiple ductal plate malformations, such as microhamartomas, in most mice by 12 months

abnormal kidney collecting duct morphology ( J:193544 )

• multiple ductal plate malformations, such as microhamartomas, in most mice by 12 months

dilated proximal convoluted tubule ( J:193544 )

renal fibrosis ( J:193544 )

• increases over time

homeostasis/metabolism

increased blood urea nitrogen level ( J:193544 )

• by 9 months of age

neoplasm

increased renal hamartoma incidence ( J:193544 )

• multiple ductal plate malformations, such as microhamartomas, in most mice by 12 months

growth/size/body

polycystic kidney ( J:193544 )

• mice develop mild but progressive polycystic kidney disease

• as early as E16.5

• at P1, cysts arise primarily from the proximal tubule

• at 3 months, cysts arise primarily from the collecting duct

• at 3 months, cysts range form 0.3 to 2.5 mm

• cyst burden varies but increased with time

enlarged kidney ( J:193544 )

• kidney volume increases progressively over time until 12 months of age

increased kidney weight ( J:193544 )

• increases progressively over time until 12 months of age

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
polycystic kidney disease 1		DOID:0110858	OMIM:173900	J:193544

Allelic Composition	Pkd1^tm1Shh/Pkd1^tm1.1Pcha
Genetic Background	involves: 129P2/OlaHsd * 129S1/Sv * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pkd1^tm1.1Pcha mutation (0 available); any Pkd1 mutation (153 available)
Pkd1^tm1Shh mutation (0 available); any Pkd1 mutation (153 available)

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

Pkd1^tm1.1Pcha/Pkd1^tm1Shh mice show early-onset and rapidly progressive cystic disease

mortality/aging

premature death ( J:193544 )

• beginning at P20

• median survival at P28

• most mice die by P50

renal/urinary system

increased kidney epithelial cell primary cilium length ( J:193544 )

• elongated collecting duct primary cilia at P25 and 12 months

polycystic kidney ( J:193544 )

• as early as E15.5, progressively worsening over time

• at P1, cysts arise primarily from the proximal tubule

• at P25, cysts arise primarily from the collecting duct

enlarged kidney ( J:193544 )

• at P1

increased kidney weight ( J:193544 )

• at P1, increasing with time

renal fibrosis ( J:193544 )

• increases over time

kidney failure ( J:193544 )

• associated with death

skeleton

decreased bone mineral density ( J:193544 )

decreased compact bone mass ( J:193544 )

• at male and female mice at P25

decreased trabecular bone mass ( J:193544 )

• at male and female mice at P25

cardiovascular system

thick myocardium ( J:193544 )

• in the left ventricle

heart left ventricle hypertrophy ( J:193544 )

increased heart weight ( J:193544 )

cellular

increased kidney epithelial cell primary cilium length ( J:193544 )

• elongated collecting duct primary cilia at P25 and 12 months

increased cell proliferation ( J:193544 )

• in kidney cysts and non-dilated tubules

homeostasis/metabolism

uremia ( J:193544 )

• at P12

increased blood urea nitrogen level ( J:193544 )

• at P12 and P25

endocrine/exocrine glands

increased activity of parathyroid ( J:193544 )

• secondary

growth/size/body

heart left ventricle hypertrophy ( J:193544 )

increased heart weight ( J:193544 )

polycystic kidney ( J:193544 )

• as early as E15.5, progressively worsening over time

• at P1, cysts arise primarily from the proximal tubule

• at P25, cysts arise primarily from the collecting duct

enlarged kidney ( J:193544 )

• at P1

increased kidney weight ( J:193544 )

• at P1, increasing with time

muscle

thick myocardium ( J:193544 )

• in the left ventricle

heart left ventricle hypertrophy ( J:193544 )

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
polycystic kidney disease 1		DOID:0110858	OMIM:173900	J:193544

Allelic Composition	Mirc1^tm1.1Tyj/Mirc1^tm1.1Tyj Pkd1^tm1.1Pcha/Pkd1^tm2Som Tg(Cdh16-cre)91Igr/0
Genetic Background	involves: 129 * 129S4/SvJae * C57BL/6 * ICR

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Mirc1^tm1.1Tyj mutation (1 available); any Mirc1 mutation (6 available)
Pkd1^tm1.1Pcha mutation (0 available); any Pkd1 mutation (153 available)
Pkd1^tm2Som mutation (0 available); any Pkd1 mutation (153 available)
Tg(Cdh16-cre)91Igr mutation (1 available)

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

renal/urinary system

renal/urinary system phenotype ( J:244067 )

N	• renal function and renal interstitial fibrosis are improved compared to conditional Pkd1 compound heterozygotes and mice live past 1 year of age

decreased kidney cell proliferation ( J:244067 )

• mice show a decrease in cyst epithelial cell proliferation compared to conditional Pkd1 compound heterozygotes

kidney cyst ( J:244067 )

• cyst size is reduced compared to conditional Pkd1 compound heterozygotes

decreased kidney weight ( J:244067 )

• kidney weight is reduced compared to conditional Pkd1 compound heterozygotes

cellular

abnormal peroxisome morphology ( J:244067 )

• the number of peroxisomes in the kidneys is reduced compared to conditional Pkd1 compound heterozygotes

decreased kidney cell proliferation ( J:244067 )

• mice show a decrease in cyst epithelial cell proliferation compared to conditional Pkd1 compound heterozygotes

increased fatty acid oxidation ( J:244067 )

• fatty acid oxidation is increased in kidneys compared to conditional Pkd1 compound heterozygotes

abnormal redox activity ( J:244067 )

• reactive oxidative species level is decreased in the kidneys compared to conditional Pkd1 compound heterozygotes

homeostasis/metabolism

increased fatty acid oxidation ( J:244067 )

• fatty acid oxidation is increased in kidneys compared to conditional Pkd1 compound heterozygotes

decreased circulating creatinine level ( J:244067 )

• mice show decreased levels at 3, 7, and 15 weeks of age compared to conditional Pkd1 compound heterozygotes

growth/size/body

kidney cyst ( J:244067 )

• cyst size is reduced compared to conditional Pkd1 compound heterozygotes

Allelic Composition	Pkd1^tm1.1Pcha/Pkd1^tm2Som Tg(Cdh16-cre)91Igr/0
Genetic Background	involves: 129 * 129S4/SvJae * C57BL/6 * ICR

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pkd1^tm1.1Pcha mutation (0 available); any Pkd1 mutation (153 available)
Pkd1^tm2Som mutation (0 available); any Pkd1 mutation (153 available)
Tg(Cdh16-cre)91Igr mutation (1 available)

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

mortality/aging

premature death ( J:244067 )

• median survival is 206 days

renal/urinary system

polycystic kidney ( J:244067 )

• mice develop polycystic kidney disease

renal interstitial fibrosis ( J:244067 )

abnormal kidney physiology ( J:244067 )

• mice show impaired renal function

increased kidney cell proliferation ( J:244067 )

• increase in cyst epithelial cell proliferation

cellular

abnormal peroxisome morphology ( J:244067 )

• the number of peroxisomes is decreased in kidney cysts

increased kidney cell proliferation ( J:244067 )

• increase in cyst epithelial cell proliferation

decreased fatty acid oxidation ( J:244067 )

• fatty acid oxidation is decreased in kidneys

oxidative stress ( J:244067 )

• reactive oxidative species level is increased in the kidneys

homeostasis/metabolism

decreased fatty acid oxidation ( J:244067 )

• fatty acid oxidation is decreased in kidneys

increased circulating creatinine level ( J:244067 )

• levels are increased at 3, 7, and 15 weeks of age

growth/size/body

polycystic kidney ( J:244067 )

• mice develop polycystic kidney disease

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
polycystic kidney disease 1		DOID:0110858	OMIM:173900	J:244067

Allelic Composition	Mirc1^tm1.1Tyj/Mirc1^tm1.1Tyj Pkd1^tm1.1Pcha/Pkd1^tm1.1Pcha Tg(Cdh16-cre)91Igr/0
Genetic Background	involves: 129 * 129S4/SvJae * C57BL/6 * ICR

Find Mice

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

renal/urinary system

renal/urinary system phenotype ( J:244067 )

N	• mice exhibit attenuated cyst growth and reduced renal fibrosis compared to single Pkd1^tm1.1Pcha homozygotes

homeostasis/metabolism

decreased blood urea nitrogen level ( J:244067 )

• mice exhibit lower blood urea nitrogen (BUN) levels compared to single Pkd1^tm1.1Pcha homozygotes

Allelic Composition	Pkd1^tm1.1Pcha/Pkd1^tm1.1Pcha Ppara^tm1Gonz/Ppara^tm1Gonz
Genetic Background	involves: 129 * 129S4/SvJae * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pkd1^tm1.1Pcha mutation (0 available); any Pkd1 mutation (153 available)
Ppara^tm1Gonz mutation (5 available); any Ppara mutation (42 available)

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

renal/urinary system

increased kidney cell proliferation ( J:244067 )

• cyst epithelial proliferation is increased

polycystic kidney ( J:244067 )

• all mice exhibit numerous kidney cysts

enlarged kidney ( J:244067 )

• kidney-weight to body-weight ratio is increased

cellular

increased kidney cell proliferation ( J:244067 )

• cyst epithelial proliferation is increased

growth/size/body

polycystic kidney ( J:244067 )

• all mice exhibit numerous kidney cysts

enlarged kidney ( J:244067 )

• kidney-weight to body-weight ratio is increased

Allelic Composition	Pkd1^tm1.1Pcha/Pkd1^tm1.1Pcha Tg(Cdh16-cre)91Igr/0
Genetic Background	involves: 129 * 129S4/SvJae * C57BL/6 * ICR

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pkd1^tm1.1Pcha mutation (0 available); any Pkd1 mutation (153 available)
Tg(Cdh16-cre)91Igr mutation (1 available)

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

renal/urinary system

polycystic kidney ( J:244067 )

• mice exhibit slow cyst growth

renal fibrosis ( J:244067 )

• mice develop renal fibrosis

homeostasis/metabolism

increased blood urea nitrogen level ( J:244067 )

growth/size/body

polycystic kidney ( J:244067 )

• mice exhibit slow cyst growth

Allelic Composition	Hoxb3os^em1Kabo/Hoxb3os^em1Kabo Pkd1^tm1.1Pcha/Pkd1^tm1.1Pcha
Genetic Background	involves: 129 * C57BL/6J

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Hoxb3os^em1Kabo mutation (0 available); any Hoxb3os mutation (3 available)
Pkd1^tm1.1Pcha mutation (0 available); any Pkd1 mutation (153 available)

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

renal/urinary system

increased kidney cell proliferation ( J:345935 )

• percentage of Ki67+ cells is increased by 60% in kidneys, indicating increased cell proliferation

kidney cyst ( J:345935 )

• mice exhibit exacerbated cyst growth in kidneys compared to single Pdk1 homozygotes, with a 71% increase in cyst index, 64% increase in cyst number, and 27% increase in kidney weight/body weight ratio

cellular

increased kidney cell proliferation ( J:345935 )

• percentage of Ki67+ cells is increased by 60% in kidneys, indicating increased cell proliferation

growth/size/body

kidney cyst ( J:345935 )

Allelic Composition	Pkd1^tm1.1Pcha/Pkd1^tm1.1Pcha Pkd2^tm1Som/Pkd2⁺
Genetic Background	involves: 129 * C57BL/6J * SJL

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pkd1^tm1.1Pcha mutation (0 available); any Pkd1 mutation (153 available)
Pkd2^tm1Som mutation (0 available); any Pkd2 mutation (84 available)

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

renal/urinary system

polycystic kidney ( J:220561 )

• mice show an intermediate level of polycystic kidney disease severity between homozygous Pkd1^tm1.1Pcha mice and double mutants homozygous for Pkd1^tm1.1Pcha and heterozygous for Pkd2^tm2Som

increased kidney weight ( J:220561 )

• kidney weight to body weight ratio is increased to the same extent as in single Pkd1^tm1.1Pcha homozygotes

homeostasis/metabolism

increased blood urea nitrogen level ( J:220561 )

• blood urea nitrogen levels are increased to the same extent as in single Pkd1^tm1.1Pcha homozygotes

growth/size/body

polycystic kidney ( J:220561 )

• mice show an intermediate level of polycystic kidney disease severity between homozygous Pkd1^tm1.1Pcha mice and double mutants homozygous for Pkd1^tm1.1Pcha and heterozygous for Pkd2^tm2Som

increased kidney weight ( J:220561 )

• kidney weight to body weight ratio is increased to the same extent as in single Pkd1^tm1.1Pcha homozygotes

Allelic Composition	Pkd1^tm1.1Pcha/Pkd1⁺ Pkd2^tm1Som/Pkd2^tm2Som
Genetic Background	involves: 129 * C57BL/6J * SJL

Find Mice

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

renal/urinary system

polycystic kidney ( J:220561 )

• mice show a similar level of polycystic kidney disease as single Pkd1^tm1.1Pcha homozygotes

increased kidney weight ( J:220561 )

• kidney weight to body weight ratio is increased to the same extent as in single Pkd1^tm1.1Pcha homozygotes

homeostasis/metabolism

increased blood urea nitrogen level ( J:220561 )

• blood urea nitrogen levels are increased to the same extent as in single Pkd1^tm1.1Pcha homozygotes

growth/size/body

polycystic kidney ( J:220561 )

• mice show a similar level of polycystic kidney disease as single Pkd1^tm1.1Pcha homozygotes

increased kidney weight ( J:220561 )

• kidney weight to body weight ratio is increased to the same extent as in single Pkd1^tm1.1Pcha homozygotes

Allelic Composition	Pkd1^tm1.1Pcha/Pkd1^tm1.1Pcha Pkd2^tm2Som/Pkd2⁺
Genetic Background	involves: 129 * C57BL/6J * SJL

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pkd1^tm1.1Pcha mutation (0 available); any Pkd1 mutation (153 available)
Pkd2^tm2Som mutation (0 available); any Pkd2 mutation (84 available)

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

renal/urinary system

polycystic kidney ( J:220561 )

• mice show an increase in polycystic kidney disease severity than either single mutant

increased kidney weight ( J:220561 )

• kidney weight to body weight ratio is increased compared to Pkd1^tm1.1Pcha homozygotes

homeostasis/metabolism

increased blood urea nitrogen level ( J:220561 )

• blood urea nitrogen levels are increased to the same extent as in single Pkd1^tm1.1Pcha homozygotes

growth/size/body

polycystic kidney ( J:220561 )

• mice show an increase in polycystic kidney disease severity than either single mutant

increased kidney weight ( J:220561 )

• kidney weight to body weight ratio is increased compared to Pkd1^tm1.1Pcha homozygotes

Allelic Composition	Pkd1^tm1.1Pcha/Pkd1^tm1.1Pcha Pkd2^tm1Som/Pkd2^tm2Som
Genetic Background	involves: 129 * C57BL/6J * SJL

Find Mice

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

mortality/aging

premature death ( J:220561 )

• 5 of 10 mice die before 4 months of age

renal/urinary system

polycystic kidney ( J:220561 )

• mice develop rapidly progressive polycystic kidney disease, significantly more severe than other genotypes studied

increased kidney weight ( J:220561 )

• large increase in kidney weight to body weight ratio

homeostasis/metabolism

increased blood urea nitrogen level ( J:220561 )

• large increase in blood urea nitrogen levels

growth/size/body

polycystic kidney ( J:220561 )

• mice develop rapidly progressive polycystic kidney disease, significantly more severe than other genotypes studied

increased kidney weight ( J:220561 )

• large increase in kidney weight to body weight ratio

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